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References

These sources were used to develop the Genetics Home Reference gene summary on the COL4A3 gene.

Entrez Gene
Frascà GM, Onetti-Muda A, Mari F, Longo I, Scala E, Pescucci C, Roccatello D, Alpa M, Coppo R, Li Volti G, Feriozzi S, Bergesio F, Schena FP, Renieri A; Italian Renal Immunopathology Group. Thin glomerular basement membrane disease: clinical significance of a morphological diagnosis--a collaborative study of the Italian Renal Immunopathology Group. Nephrol Dial Transplant. 2005 Mar;20(3):545-51. Epub 2004 Dec 23. PubMed citation
Gene Review: Alport Syndrome and Thin Basement Membrane Nephropathy
Gregory MC. The clinical features of thin basement membrane nephropathy. Semin Nephrol. 2005 May;25(3):140-5. Review. PubMed citation
Kashtan CE. Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes. Medicine (Baltimore). 1999 Sep;78(5):338-60. Review. PubMed citation
OMIM: COLLAGEN, TYPE IV, ALPHA-3
Pescucci C, Mari F, Longo I, Vogiatzi P, Caselli R, Scala E, Abaterusso C, Gusmano R, Seri M, Miglietti N, Bresin E, Renieri A. Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. Kidney Int. 2004 May;65(5):1598-603. PubMed citation
Rana K, Wang YY, Buzza M, Tonna S, Zhang KW, Lin T, Sin L, Padavarat S, Savige J. The genetics of thin basement membrane nephropathy. Semin Nephrol. 2005 May;25(3):163-70. Review. PubMed citation
Slajpah M, Gorinsek B, Berginc G, Vizjak A, Ferluga D, Hvala A, Meglic A, Jaksa I, Furlan P, Gregoric A, Kaplan-Pavlovcic S, Ravnik-Glavac M, Glavac D. Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria. Kidney Int. 2007 Jun;71(12):1287-95. Epub 2007 Mar 28. PubMed citation
Tazón Vega B, Badenas C, Ars E, Lens X, Milà M, Darnell A, Torra R. Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases. Am J Kidney Dis. 2003 Nov;42(5):952-9. PubMed citation
Wang YY, Rana K, Tonna S, Lin T, Sin L, Savige J. COL4A3 mutations and their clinical consequences in thin basement membrane nephropathy (TBMN). Kidney Int. 2004 Mar;65(3):786-90. PubMed citation


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